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https://www.readbyqxmd.com/read/28329674/%C3%AE-arrestin2-couples-metabotropic-glutamate-receptor-5-to-neuronal-protein-synthesis-and-is-a-potential-target-to-treat-fragile-x
#1
Laura J Stoppel, Benjamin D Auerbach, Rebecca K Senter, Anthony R Preza, Robert J Lefkowitz, Mark F Bear
Synaptic protein synthesis is essential for modification of the brain by experience and is aberrant in several genetically defined disorders, notably fragile X (FX), a heritable cause of autism and intellectual disability. Neural activity directs local protein synthesis via activation of metabotropic glutamate receptor 5 (mGlu5), yet how mGlu5 couples to the intracellular signaling pathways that regulate mRNA translation is poorly understood. Here, we provide evidence that β-arrestin2 mediates mGlu5-stimulated protein synthesis in the hippocampus and show that genetic reduction of β-arrestin2 corrects aberrant synaptic plasticity and cognition in the Fmr1(-/y) mouse model of FX...
March 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/28327383/sigueme-technology-based-intervention-for-low-functioning-autism-to-train-skills-to-work-with-visual-signifiers-and-concepts
#2
María Vélez-Coto, María José Rodríguez-Fórtiz, María Luisa Rodriguez-Almendros, Marcelino Cabrera-Cuevas, Carlos Rodríguez-Domínguez, Tomás Ruiz-López, Ángeles Burgos-Pulido, Inmaculada Garrido-Jiménez, Juan Martos-Pérez
BACKGROUND: People with low-functioning ASD and other disabilities often find it difficult to understand the symbols traditionally used in educational materials during the learning process. Technology-based interventions are becoming increasingly common, helping children with cognitive disabilities to perform academic tasks and improve their abilities and knowledge. Such children often find it difficult to perform certain tasks contained in educational materials since they lack necessary skills such as abstract reasoning...
March 16, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28327327/investing-in-autism-better-evidence-for-better-care
#3
EDITORIAL
The Lancet Neurology
No abstract text is available yet for this article.
April 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28326932/a-critical-role-of-spinal-shank2-proteins-in-nmda-induced-pain-hypersensitivity
#4
Seo-Yeon Yoon, Soon-Gu Kwon, Yong Ho Kim, Ji-Hee Yeo, Hyoung-Gon Ko, Dae-Hyun Roh, Bong-Kiun Kaang, Alvin J Beitz, Jang-Hern Lee, Seog Bae Oh
Background Self-injurious behaviors (SIBs) are devastating traits in autism spectrum disorder (ASD). Although deficits in pain sensation might be one of the contributing factors underlying the development of SIBs, the mechanisms have yet to be addressed. Recently, the Shank2 synaptic protein has been considered to be a key component in ASD, and mutations of SHANK2 gene induce the dysfunction of N-methyl-D-aspartate (NMDA) receptors, suggesting a link between Shank2 and NMDA receptors in ASD. Given that spinal NMDA receptors play a pivotal role in pain hypersensitivity, we investigated the possible role of Shank2 in nociceptive hypersensitivity by examining changes in spontaneous pain following intrathecal NMDA injection in S hank2-/- ( Shank2 knock-out, KO) mice...
January 2017: Molecular Pain
https://www.readbyqxmd.com/read/28326797/positive-and-negative-social-exchanges-experienced-by-fathers-and-mothers-of-children-with-autism
#5
Emily J Hickey, Lindsay Dubois, Sigan L Hartley
When faced with child-related challenges associated with autism spectrum disorder, positive and negative social exchanges may be critical to parents' psychological well-being. This study examined the types and sources of positive and negative social exchanges reported by mothers and fathers of children with autism spectrum disorder and their association with parental depressive symptoms in 176 families of children (5-12 years; 85% male) with autism spectrum disorder. One-way repeated measure multivariate analyses of variance and multilevel modeling were used...
March 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28326792/-i-was-just-so-different-the-experiences-of-women-diagnosed-with-an-autism-spectrum-disorder-in-adulthood-in-relation-to-gender-and-social-relationships
#6
Lucie Kanfiszer, Fran Davies, Suzanne Collins
Existing literature exploring autism spectrum disorders within female populations predominantly utilises quantitative methodology. A limited number of small-scale, qualitative studies have explored the experiences of adolescent girls with autism spectrum disorder, but adult women have remained largely unheard. This study aims to broaden the stories told within autobiographical literature and empower those within the wider community of women with autism spectrum disorder. In doing so, it seeks to extend existing conceptualisations of experience to include socially and culturally located factors...
March 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28326463/relationship-between-selenium-lead-and-mercury-in-red-blood-cells-of-saudi-autistic-children
#7
Afaf El-Ansary, Geir Bjørklund, Alexey A Tinkov, Anatoly V Skalny, Hussain Al Dera
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that can cause significant social, communication and behavioral challenges. Environmental contribution to ASD is due in large part to the sensitivity of the developing brain to external exposures such as lead (Pb), and mercury (Hg) as toxic heavy metals or due to a poor detoxification ability as the phenotype of this disorder. Selenium (Se) as an antioxidant element that counteracts the neurotoxicity of Hg, and Pb, presumably through the formation of nontoxic complexes...
March 21, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28326054/dynamical-constants-and-time-universals-a-first-step-toward-a-metrical-definition-of-ordered-and-abnormal-cognition
#8
REVIEW
Mark A Elliott, Naomi du Bois
From the point of view of the cognitive dynamicist the organization of brain circuitry into assemblies defined by their synchrony at particular (and precise) oscillation frequencies is important for the correct correlation of all independent cortical responses to the different aspects of a given complex thought or object. From the point of view of anyone operating complex mechanical systems, i.e., those comprising independent components that are required to interact precisely in time, it follows that the precise timing of such a system is essential - not only essential but measurable, and scalable...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28325891/whole-exome-sequencing-identifies-a-novel-de-novo-mutation-in-dync1h1-in-epileptic-encephalopathies
#9
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu
Epileptic encephalopathies (EE) are a group of severe childhood epilepsy disorders characterized by intractable seizures, cognitive impairment and neurological deficits. Recent whole-exome sequencing (WES) studies have implicated significant contribution of de novo mutations to EE. In this study, we utilized WES for identifying causal de novo mutations in 4 parent-offspring trios affected by West syndrome. As a result, we found two deleterious de novo mutations in DYNC1H1 and RTP1 in two trios. Expression profile analysis showed that DYNC1H1 and RTP1 are expressed in almost all brain regions and developmental stages...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28325617/human-genetics-and-sleep-behavior
#10
REVIEW
Guangsen Shi, David Wu, Louis J Ptáček, Ying-Hui Fu
Why we sleep remains one of the greatest mysteries in science. In the past few years, great advances have been made to better understand this phenomenon. Human genetics has contributed significantly to this movement, as many features of sleep have been found to be heritable. Discoveries about these genetic variations that affect human sleep will aid us in understanding the underlying mechanism of sleep. Here we summarize recent discoveries about the genetic variations affecting the timing of sleep, duration of sleep and EEG patterns...
March 15, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28325448/diagnosis-of-autism-through-eeg-processed-by-advanced-computational-algorithms-a-pilot-study
#11
Enzo Grossi, Chiara Olivieri, Massimo Buscema
BACKGROUND: Multi-Scale Ranked Organizing Map coupled with Implicit Function as Squashing Time algorithm(MS-ROM/I-FAST) is a new, complex system based on Artificial Neural networks (ANNs) able to extract features of interest in computerized EEG through the analysis of few minutes of their EEG without any preliminary pre-processing. A proof of concept study previously published showed accuracy values ranging from 94%-98% in discerning subjects with Mild Cognitive Impairment and/or Alzheimer's Disease from healthy elderly people...
April 2017: Computer Methods and Programs in Biomedicine
https://www.readbyqxmd.com/read/28325062/personal-experiences-of-the-criminal-justice-system-by-individuals-with-autism-spectrum-disorders
#12
Sissel Berge Helverschou, Kari Steindal, Jim Aage Nøttestad, Patricia Howlin
The processes of arrest, investigation, trial and imprisonment are often extremely difficult for individuals with autism spectrum disorders. In this study, nine offenders with autism spectrum disorders were interviewed about the circumstance surrounding the criminal acts, their views of the arrest, the police interrogation, the trial and the defence and their experiences of being in prison and/or life following the offence. The nine individuals described a range of different and often negative experiences with the Criminal Justice System...
March 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28325061/overweight-and-obese-status-in-children-with-autism-spectrum-disorder-and-disruptive-behavior
#13
Kristen K Criado, William G Sharp, Courtney E McCracken, Oana De Vinck-Baroody, Liansai Dong, Michael G Aman, Christopher J McDougle, James T McCracken, L Eugene Arnold, Carol Weitzman, John M Leventhal, Benedetto Vitiello, Lawrence Scahill
Overweight and obesity are common in pediatric populations. Children with autism spectrum disorder and disruptive behavior may be at higher risk. This study examined whether children with autism spectrum disorder and disruptive behavior are more likely to be overweight or obese than matched controls. Baseline data from medication-free children with autism spectrum disorder who participated in trials conducted by the Research Units on Pediatric Psychopharmacology Autism Network (N = 276) were compared to 544 control children from the National Health and Nutrition Examination Survey database matched on age, sex, race, parent education, and era of data collection...
March 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28324861/behavioral-improvements-in-a-valproic-acid-rat-model-of-autism-following-vitamin-d-supplementation
#14
Lin Du, Guolian Zhao, Zipeng Duan, Fan Li
The aim was to identify the effects of early vitamin D supplementation on autism-like behaviors (ASD) induced by valproic acid (VPA, an anti-convulsant and a mood stabilizer) in rats. 10 male Wistar rat pups with prenatal exposure to saline were in control group, and 20 Pups with prenatal exposure to VPA were divided into ASD-N (0.9% saline treated) and ASD-D group (vitamin D 80,000 IU/kg treated) on postnatal day 12. Self-grooming, olfactory habituation/dishabituation, and social interaction tests were conducted to assess social interaction, communication, and repetitive behaviors...
March 6, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28324694/screening-of-autism-based-on-task-free-fmri-using-graph-theoretical-approach
#15
Masoumeh Sadeghi, Reza Khosrowabadi, Fatemeh Bakouie, Hoda Mahdavi, Changiz Eslahchi, Hamidreza Pouretemad
Studies on autism spectrum disorder (ASD) have indicated several dysfunctions in the structure, and functional organization of the brain. However, findings have not been established as a general diagnostic tool yet. In this regard, current study proposed an automatic screening method for recognition of ASDs from healthy controls (HCs) based on their brain functional abnormalities. In this paradigm, brain functional networks of 60 adolescent and young adult males (29 ASDs and 31 HCs) were estimated from subjects' task-free fMRI data...
March 9, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28324109/sex-specific-life-course-changes-in-the-neuro-metabolic-phenotype-of-glut3-null-heterozygous-mice-ketogenic-diet-ameliorates-electroencephalographic-seizures-and-improves-sociability
#16
Yun Dai, Yuanzi Zhao, Masatoshi Tomi, Bo-Chul Shin, Shanthie Thamotharan, Andrey Mazarati, Raman Sankar, Elizabeth A Wang, Carlos Cepeda, Michael S Levine, Jingjing Zhang, Andrew Frew, Jeffry R Alger, Peter Clark, Monica Sondhi, Sudatip Kositamongkol, Leah Leibovitch, Sherin U Devaskar
We tested the hypothesis that exposure of glut3+/- mice to a ketogenic diet ameliorates autism-like features which includes aberrant behavior and electrographic seizures. We first investigated the life course sex-specific changes in basal plasma-CSF-brain metabolic profile, brain glucose transport/uptake, glucose and monocarboxylate transporter proteins, and ATP in the presence or absence of systemic insulin administration. Glut3+/- male but not female mice (5m of age) displayed reduced CSF glucose/lactate concentrations with no change in brain Glut1, Mct2, glucose uptake or ATP...
January 24, 2017: Endocrinology
https://www.readbyqxmd.com/read/28323463/injury-mortality-in-individuals-with-autism
#17
Joseph Guan, Guohua Li
OBJECTIVES: To examine epidemiological patterns of injury fatalities in individuals with a diagnosis of autism. METHODS: We identified individuals with a diagnosis of autism who died between 1999 and 2014 by screening causes of death in the multiple cause-of-death data files in the National Vital Statistics System based on the International Classification of Diseases, 10th Revision, code F84.0. We used the general US population as the reference to calculate proportionate mortality ratios (PMRs) and 95% confidence intervals (CIs)...
March 21, 2017: American Journal of Public Health
https://www.readbyqxmd.com/read/28323454/interaction-behaviors-of-bilingual-parents-with-their-young-children-with-autism-spectrum-disorder
#18
Kristelle Hudry, Lisa Rumney, Nicole Pitt, Josephine Barbaro, Giacomo Vivanti
Given concerns that bilingual exposure might confuse children with disabilities-including autism spectrum disorder (ASD)-bilingual parents may restrict exposure to one language, often the community-dominant language. We investigated a potential consequence of this decision; the possibility that non-native language use might influence parental communicative behaviors during interaction with the child. We recruited 39 parent-child dyads, each with a young child with ASD (mostly boys) and parent/carer (mostly mothers)...
March 21, 2017: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/28323282/an-autism-associated-serotonin-transporter-variant-disrupts-multisensory-processing
#19
J K Siemann, C L Muller, C G Forsberg, R D Blakely, J Veenstra-VanderWeele, M T Wallace
Altered sensory processing is observed in many children with autism spectrum disorder (ASD), with growing evidence that these impairments extend to the integration of information across the different senses (that is, multisensory function). The serotonin system has an important role in sensory development and function, and alterations of serotonergic signaling have been suggested to have a role in ASD. A gain-of-function coding variant in the serotonin transporter (SERT) associates with sensory aversion in humans, and when expressed in mice produces traits associated with ASD, including disruptions in social and communicative function and repetitive behaviors...
March 21, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28323226/herc1-mutations-in-idiopathic-intellectual-disability
#20
G Eda Utine, Ekim Z Taşkıran, Can Koşukcu, Beren Karaosmanoğlu, Naz Güleray, Özlem Akgün Doğan, P Özlem Şimşek Kiper, Koray Boduroğlu, Mehmet Alikaşifoğlu
HERC1 is a member of HERC protein family of ubiquitin ligases and is a negative regulator of the mTOR pathway. It is also a guanine nucleotide exchange factor for ARF and Rab family GTPases. Biallelic mutations in HERC1 were recently shown to cause a human phenotype with overgrowth and intellectual disability as main features. Herein we describe clinical features in another patient with homozygous novel mutation in HERC1. Moderate to severe intellectual disability, hypotonia, macrocephaly, tall stature, and facial features appear as main clinical features of the condition...
March 16, 2017: European Journal of Medical Genetics
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